A FAMILY WITH MYSM1 MUTATION
Makaleler > Tam Makale · 2025
Yazarlar: Deniz YILMAZ KARAPINAR, Nihal KARADAŞ, Ayami Yoshimi, Charlotte Niemeyer, Miriam Erlacher, Deniz Yilmaz Karapinar
EJC Paediatric Oncology, Uluslararası, Scopus, 2025, cilt 6, ss 100367-100367
DOI: 10.1016/j.ejcped.2025.100367
Özet
Background and Aims: Autosomal recessive mutations in MYSM1 cause a rare inherited bone marrow failure syndrome. Here we describe two siblings harboring a homozygous MYSM1 mutation. Case 1: The 13 months old girl presented with minor neurodevelopmental delay. Her history and physical examination were normal except for signs of anemia. Laboratory investigations revealed Hgb: 3.6 g/dL, MCV: 106 fL, platelet count: 100.000/mm3, WBC: 3890/mm3, ANC: 1130/mm3, reticulocytes: 2.5%, and HbF: 9.2%. Bone marrow was hypocellular with minimal dysplasia.